RAG2 (recombination activating 2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5897
Gene name Gene Name - the full gene name approved by the HGNC.
Recombination activating 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAG2
Synonyms (NCBI Gene) Gene synonyms aliases
RAG-2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand b
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
miRTarBase ID miRNA Experiments Reference
MIRT1288430 hsa-miR-142-5p CLIP-seq
MIRT1288431 hsa-miR-154 CLIP-seq
MIRT1288432 hsa-miR-186 CLIP-seq
MIRT1288433 hsa-miR-299-3p CLIP-seq
MIRT1288434 hsa-miR-3133 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
HMGA1 Unknown 15713121
LEF1 Unknown 12244173
MYB Unknown 12044781
PAX5 Unknown 11094072;12044781
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(44)
GO ID Ontology Definition Evidence Reference
GO:0002313 Process Mature B cell differentiation involved in immune response IEA
GO:0002326 Process B cell lineage commitment IEA
GO:0002331 Process Pre-B cell allelic exclusion IEA
GO:0002331 Process Pre-B cell allelic exclusion ISS
GO:0002358 Process B cell homeostatic proliferation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
179616 9832 ENSG00000175097
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P55895
Protein name V(D)J recombination-activating protein 2 (RAG-2)
Protein function Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymph
PDB 8T4R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03089 RAG2 51 → 389 Recombination activating protein 2 Family
PF13341 RAG2_PHD 414 → 491 RAG2 PHD domain Domain
Tissue specificity TISSUE SPECIFICITY: Cells of the B- and T-lymphocyte lineages.
Sequence
Sequence length 527
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  FoxO signaling pathway
Primary immunodeficiency 		  MAPK6/MAPK4 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
histiocytic medullary reticulosis Histiocytic medullary reticulosis rs768567592, rs121917897, rs193922572, rs121917894, rs193922574, rs121917895, rs748727021, rs121917896, rs36001797, rs1564995662, rs765298019 N/A
Severe combined immunodeficiency disease Severe combined immunodeficiency, B cell-negative, severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive rs121917894, rs1564995660, rs1564995662, rs2133313409, rs121917897 N/A
severe combined immunodeficiency disease Severe combined immunodeficiency disease rs148508754, rs193922574, rs121917896 N/A
Common Variable Immunodeficiency common variable immunodeficiency rs1590715754 N/A
Show/Hide Text Mining Associations (41)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 19404965
Arthrogryposis Associate 20128425
Autoimmune Diseases Associate 24290284, 26186701, 30307608, 31388879, 34664192
Common Variable Immunodeficiency Associate 26186701
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 30307608
Death Associate 20128425
Drug Resistant Epilepsy Associate 34664192
Eosinophilia Associate 31885011, 9630231
Epstein Barr Virus Infections Associate 26186701
Exanthema Associate 31885011